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Disease Synonyms Description Articles Phenotypes
hypotrichosis 5
Muhh2; Marie Unna Hereditary Hypotrichosis 2; Hypt.. [+]
A hypotrichosis that has_material_basis_in a mutat..[+]
hypotrichosis 6
Monilethrix-like hypotrichosis; autosomal recessiv.. [+]
A hypotrichosis that has_material_basis_in a autos..[+]
Warburg micro syndrome 1
Micro Syndrome 1; WARBM1
A Warburg micro syndrome that has_material_basis_i..[+]
Warburg micro syndrome 2
Micro Syndrome 2; WARBM2
A Warburg micro syndrome that has_material_basis_i..[+]
Warburg micro syndrome 3
Micro Syndrome 3; WARBM3
A Warburg micro syndrome that has_material_basis_i..[+]
Warburg micro syndrome 4
Micro Syndrome 4; WARBM4
A Warburg micro syndrome that has_material_basis_i..[+]
neurodegeneration with brain iron accumulation 4
MPAN; Mitochondrial Protein-Associated Neurodegene.. [+]
A neurodegeneration with brain iron accumulation t..[+]
posterior polymorphous corneal dystrophy 1
Maumenee Corneal Dystrophy; Ched1; Corneal Endothe.. [+]
A posterior polymorphous corneal dystrophy that ha..[+]
congenital stationary night blindness 1A
myopia-night blindness; congenital stationary nigh.. [+]
A congenital stationary night blindness that has_m..[+]
adult hypophosphatasia
mild hypophosphatasia
A hypophosphatasia that has_material_basis_in a he..[+]
autosomal recessive osteopetrosis 3
marble brain disease; autosomal recessive osteopet.. [+]
An osteopetrosis characterized by autosomal recess..[+]
autosomal recessive osteopetrosis 2
mild autosomal recessive form osteopetrosis; OPTB2.. [+]
An osteopetrosis characterized by autosomal recess..[+]
brachydactyly type A2
Mohr-Wriedt type brachydactyly; BDA2; brachymesoph.. [+]
A brachydactyly characterized by autosomal dominan..[+]
hypermethioninemia due to adenosine kinase deficiency
MRT8; ADK hypermethioninemia; autosomal recessive .. [+]
A hypermethioninemia characterized by autosomal re..[+]
glycogen storage disease IXd
muscle phosphorylase kinase deficiency; glycogen s.. [+]
A glycogen storage disease IX that is characterize..[+]
hyperphosphatemic familial tumoral calcinosis
morbus Teutschlaender; cortical hyperostosis with .. [+]
A calcinosis characterized by autosomal recessive ..[+]
postural orthostatic tachycardia syndrome
mitral valve prolapse syndrome; familial orthostat.. [+]
A heart conduction disease characterized by orthos..[+]
spermatogenic failure 9
male infertility due to round-headed spermatozoa; .. [+]
A male infertility characterized by round-headed s..[+]
French Canadian Leigh disease
mitochondrial complex IV deficiency nuclear type 5.. [+]
A cytochrome-c oxidase deficiency disease characte..[+]
familial hemiplegic migraine 1
MHP1; familial hemiplegic migraine1 with progressi.. [+]
A familial hemiplegic migraine that is commonly as..[+]
familial hemiplegic migraine 2
MHP2; Familial hemiplegic migraine-2; FHM2
A familial hemiplegic migraine that has_material_b..[+]
familial hemiplegic migraine 3
MHP3; FHM3
A familial hemiplegic migraine that has_material_b..[+]
distal myopathy 3
MPD3; distal myopathy 3; distal myopathy type 3; d.. [+]
A distal myopathy that is characterized by adult o..[+]
distal myopathy 4
MPD4; distal ABD-filaminopathy; distal myopathy 4; .. [+]
A distal myopathy that has_material_basis_in heter..[+]
centronuclear myopathy X-linked
MTM1; myotubular myopathy 1; CNMX; X-linked myotub.. [+]
A centronuclear myopathy that has_material_basis_i..[+]
congenital muscular dystrophy-dystroglycanopathy type A
MDDGA; congenital muscular alpha-dystroglycanopath.. [+]
A congenital muscular dystrophy-dystroglycanopathy..[+]
congenital muscular dystrophy-dystroglycanopathy type A11
MDDGA11; congenital muscular dystrophy-dystroglyca.. [+]
A congenital muscular dystrophy-dystroglycanopathy..[+]
congenital muscular dystrophy-dystroglycanopathy type A8
MDDGA8; congenital muscular dystrophy-dystroglycan.. [+]
A congenital muscular dystrophy-dystroglycanopathy..[+]
congenital muscular dystrophy-dystroglycanopathy type A9
MDDGA9; congenital muscular dystrophy-dystroglycan.. [+]
A congenital muscular dystrophy-dystroglycanopathy..[+]
congenital muscular dystrophy-dystroglycanopathy A14
MDDGA14; congenital muscular dystrophy-dystroglyca.. [+]
A congenital muscular dystrophy-dystroglycanopathy..[+]
congenital muscular dystrophy-dystroglycanopathy A7
MDDGA7; congenital muscular dystrophy-dystroglycan.. [+]
A congenital muscular dystrophy-dystroglycanopathy..[+]
congenital muscular dystrophy-dystroglycanopathy type A12
MDDGA12; congenital muscular dystrophy-dystroglyca.. [+]
A congenital muscular dystrophy-dystroglycanopathy..[+]
congenital muscular dystrophy-dystroglycanopathy type A3
MDDGA3; congenital muscular dystrophy-dystroglycan.. [+]
A congenital muscular dystrophy-dystroglycanopathy..[+]
congenital muscular dystrophy-dystroglycanopathy type A1
MDDGA1; congenital muscular dystrophy-dystroglycan.. [+]
A congenital muscular dystrophy-dystroglycanopathy..[+]
congenital muscular dystrophy-dystroglycanopathy type A13
MDDGA13; congenital muscular dystrophy-dystroglyca.. [+]
A congenital muscular dystrophy-dystroglycanopathy..[+]
congenital muscular dystrophy-dystroglycanopathy type A10
MDDGA10; congenital muscular dystrophy-dystroglyca.. [+]
A congenital muscular dystrophy-dystroglycanopathy..[+]
congenital muscular dystrophy-dystroglycanopathy type A2
MDDGA2; congenital muscular dystrophy-dystroglycan.. [+]
A congenital muscular dystrophy-dystroglycanopathy..[+]
congenital muscular dystrophy-dystroglycanopathy type A5
MDDGA5; congenital muscular dystrophy-dystroglycan.. [+]
A congenital muscular dystrophy-dystroglycanopathy..[+]
congenital muscular dystrophy-dystroglycanopathy type A6
MDDGA6; congenital muscular dystrophy-dystroglycan.. [+]
A congenital muscular dystrophy-dystroglycanopathy..[+]
postaxial acrofacial dysostosis
mandibulfacial dysostosis with postaxial limb anom.. [+]
A syndrome characterized by severe micrognathia, c..[+]
hyaline body myopathy
myosin storage myopathy
A congenital myopathy characterized by accumulatio..[+]
autosomal recessive hyaline body myopathy
Myopathy, myosin storage, autosomal recessive; MSM.. [+]
A hyaline body myopathy that has_material_basis_in..[+]
autosomal dominant hyaline body myopathy
Myopathy, myosin storage, autosomal dominant; myop.. [+]
A hyaline body myopathy that has_material_basis_in..[+]
intellectual disability-severe speech delay-mild dysmorphism syndrome
Mental retardation with language impairment and wi.. [+]
A syndromic intellectual disability characterized ..[+]
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
Myopathy, areflexia, respiratory distress, and dys.. [+]
A congenital myopathy characterized by proximal an..[+]
congenital leptin deficiency
morbid obesity; LEPD; obesity due to congenital le.. [+]
A syndrome characterized by severe early-onset obe..[+]
Vohwinkel syndrome
Mutilating keratoderma plus deafness; mutilating k.. [+]
A syndrome characterized by severe, honeycomb-patt..[+]
Laurin-Sandrow syndrome
mirror-image polydactyly; mirror hands and feets-n.. [+]
A dysostosis characterized by polysyndactyly of ha..[+]
familial progressive hyperpigmentation with or without hypopigmentation
MUH; melanosis universalis hereditaria; FPHH
A skin disease characterized by progressive, diffu..[+]
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2
multisystem proteinopathy 2; MSP2; IBMPFD2
An inclusion body myopathy with Paget disease of b..[+]

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